Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
membrane-bound transcription factor peptidase, site 1
Synonyms:
SKI-1,  S1P,  subtilisin/kexin isozyme-1,  0610038M03Rik,  site-1 protease

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mbtps1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mbtps1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

The table below shows human diseases predicted to be associated to Mbtps1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Silver-gray hair, Hypopigmentation of the skin, Reduced delayed h... OMIM:607624
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology, Increased circulat... OMIM:613101
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections, Colitis OMIM:616098
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Hy... ORPHA:33445
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... OMIM:619281
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Increased ... OMIM:615767
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL c... OMIM:246700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abnormal hair morphology, Nail dystrophy, Hyperpigmentation ... ORPHA:46487
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Absent toenail, Ridged nail, Hyperpigmentation of the skin, Hypopigmentation ... ORPHA:89838
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Decreased circu... OMIM:618969
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia OMIM:615947
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Ulcerative colitis OMIM:619398
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Mixed hy... ORPHA:79397
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Trichohepatoenteric Syndrome 2
Villous atrophy, Sparse hair, Colitis, Brittle hair, Hepatitis, Decreased serum iron, Trichorrhex... OMIM:614602
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Uveitis, Decreased circulating... OMIM:614700
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea, Constipation OMIM:301033
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Colitis OMIM:617006
Morbid Obesity And Spermatogenic Failure
Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch... OMIM:615703
Immunodeficiency 58
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... OMIM:618131
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Gastrostomy tube feeding in in... OMIM:618156
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... OMIM:615863
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent infections, Diarrhea, Recurrent aphthous stomatitis, Colitis, Recurren... OMIM:613960
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Prader-Willi Syndrome Due To Imprinting Mutation
Feeding difficulties in infancy, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iri... ORPHA:177910
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Decreased circulating IgG level,... OMIM:608809
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Blepharitis OMIM:616834
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Tietz Albinism-Deafness Syndrome
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes OMIM:103500
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Generalized reticulate brown pigmentation, Broad eyebrow, Bronchiectasis, Reticular hyperpigmenta... OMIM:301220
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Hypopigmented skin patches, Agammaglobulinemia, Recurrent cutaneous abscess fo... ORPHA:47
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infect... ORPHA:540
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism OMIM:300700
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Decreased prealbumin... ORPHA:37042
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Mixed hy... ORPHA:79399
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Reduced natural killer cell ac... OMIM:616050
Bloom Syndrome
Oligospermia, Severe varicella zoster infection, Sparse eyelashes, Recurrent herpes, Decreased ci... ORPHA:125
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Secondary Short Bowel Syndrome
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abd... ORPHA:95427
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Vici Syndrome
Recurrent bacterial infections, Cleft palate, Ocular albinism, Recurrent fungal infections, Cutan... OMIM:242840
Phenylketonuria
Blue irides, Eczema, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Generalized hypopigme... OMIM:261600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, White eyelashes, Heterochromia ir... OMIM:277580
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Generalized hypopigmentation OMIM:113750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Lack of T cell function, Recurrent herpes, Recurrent protozoan infections, Decreased c... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Increased LDL cholesterol concentration, Decrease... OMIM:616829
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hirsutism, Generalized hypo... ORPHA:1816
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abnormal hair morphology, Ocular albinism, Freckling, Albini... OMIM:203300
Griscelli Syndrome
Pyloric stenosis, Hypopigmented skin patches, Silver-gray hair, Abnormal circulating lipid concen... ORPHA:381
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Impaired T cell function, Decreased circulating IgA le... OMIM:607594
Immunodeficiency 76
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Vici Syndrome
Feeding difficulties in infancy, High palate, Abnormality of retinal pigmentation, Feeding diffic... ORPHA:1493
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Abnormality of retinal pigmentation, Premat... ORPHA:897
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, High palate, Conjugated hyperbilirubinemia, Fair hair OMIM:269920
Alg12-Cdg
Sepsis, Hyponatremia, Small nail, Recurrent ear infections, Complete or near-complete absence of ... ORPHA:79324
Syndromic Diarrhea
Bloody diarrhea, Abnormality of iron homeostasis, Villous atrophy, Hypopigmentation of hair, Brit... ORPHA:84064
Growth Hormone Insensitivity Syndrome
Hypogonadism, Hypercholesterolemia, Abnormality of the nail, Fine hair ORPHA:181393
Griscelli Syndrome Type 2
Nausea and vomiting, Partial albinism, Hyperlipidemia, Iris hypopigmentation, Hypopigmentation of... ORPHA:79477
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... OMIM:145250
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Elevated circulating C-reactive protein concentration, Acne, Arth... OMIM:604416
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized reticulate brown pigmentation, Sepsis, Depigmentation/hyperpigmentation of skin, Feed... ORPHA:79396
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Spotty ... ORPHA:79133
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Recurren... OMIM:616000
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin, Kerat... ORPHA:90342
Potocki-Lupski Syndrome
Feeding difficulties in infancy, High palate, Hypocholesterolemia, Oral-pharyngeal dysphagia, Gas... OMIM:610883
Temple Syndrome
Cleft palate, High palate, Feeding difficulties, Recurrent otitis media, Bifid uvula, Hypercholes... OMIM:616222
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Diar... OMIM:607765
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Feeding difficulties in infancy, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentatio... ORPHA:411515
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypercholesterolemia, Primary amenorrhea, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Classic Phenylketonuria
Nausea and vomiting, Eczema, Hypopigmentation of the skin, Hyperphenylalaninemia, Hypopigmentatio... ORPHA:79254
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Abdominal distention, Steatorrhea, Diarrhea, Fat malabsorption ORPHA:71
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, Partial albinism, Heterochromia i... OMIM:148820
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Porphyria Cutanea Tarda
Viral hepatitis, Increased serum iron, Hirsutism, Increased fecal porphyrin, Hepatocellular carci... ORPHA:101330
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Feeding difficulties in infancy, Vomiting, Decreased circulating IgA level, Hypo... OMIM:212065
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Dyskeratosis Congenita, Autosomal Recessive 5
Nail dystrophy, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal ste... OMIM:615190
Cholesteryl Ester Storage Disease
Nausea and vomiting, Esophageal varix, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Chédiak-Higashi Syndrome
Abnormal platelet function, Recurrent infections, Periodontitis, Increased circulating ferritin c... ORPHA:167
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Low posterior hairline, Hepatic failure, Azoospermia ORPHA:261519
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Feeding difficulties in infancy, Brittle hair, Sparse eyebrow OMIM:618810
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... ORPHA:263501
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... ORPHA:3437
Alg3-Cdg
High palate, Macroglossia, Feeding difficulties, Recurrent infections, Hypopigmentation of the sk... ORPHA:79321
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
High palate, Generalized hypopigmentation OMIM:615075
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Recurrent infections, Onychomycosis, Crohn's disease, Perianal abscess, Im... OMIM:618935
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Spontaneous abortion, Recurrent lower respiratory tract infectio... ORPHA:86816
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Aganglionic megacolon, Cleft palate, Abnormal hair morphology, White ... ORPHA:894
Chediak-Higashi Syndrome
Ocular albinism, Silver-gray hair, Recurrent infections, Hypopigmentation of the skin, Periodonti... OMIM:214500
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Pi... ORPHA:96180
Cyclic Neutropenia
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Periodontitis, Perianal abscess, Otitis ... ORPHA:2686
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Feeding difficulties, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypopigmentation of the skin ORPHA:261304
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern,... ORPHA:1807
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Ocular albinism, Aberrant melanosome maturation, Reduced natural ... OMIM:608233
Ataxia-Telangiectasia
Decreased circulating antibody level, Multiple cafe-au-lait spots, Recurrent respiratory infectio... ORPHA:100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Pustule, Lack of T cell function, Recurrent op... ORPHA:35078
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Hepatitis, Recurrent infections, Gastritis, Crohn's disease, Decre... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Elevated circula... OMIM:614576
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Feeding difficulties, High palate, Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Shigellosis
Myocarditis, Sepsis, Tenesmus, Uveitis, Abdominal pain, Abnormal blood ion concentration, Conjunc... ORPHA:810
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Classic Mycosis Fungoides
Hypopigmented skin patches, Eczema, Alopecia, Irregular hyperpigmentation, Skin rash, Abnormality... ORPHA:2584
Sweet Syndrome
Inflammation of the large intestine, Increased circulating interleukin 6, Predominantly dermal ne... ORPHA:3243
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Pustule, Hypertrichosis, Chronic furunculosis, Recurrent cutaneous ab... ORPHA:678
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Severe varicella zoster infection, Defective T cell proliferation, Increased cir... OMIM:618213
Menkes Disease
Sparse hair, Hypopigmentation of the skin OMIM:309400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... ORPHA:98795
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pigmentary retinopathy, Pancreatitis, Hypertriglyceridemia OMIM:606721
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Onycholysis, Dystrophic toenail, Subungual hyperkerato... ORPHA:69087
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Intussusception, Diarrhea, Abdominal pain, Abnormal... ORPHA:544482
Bloom Syndrome
Spotty hypopigmentation, Hypertrichosis, Azoospermia, Decreased circulating IgA level, Bronchiect... OMIM:210900
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... OMIM:616828
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Increased circulating cortisol level, Alopecia, Chronic mucocutaneous... ORPHA:3453
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Kaufman Oculocerebrofacial Syndrome
Feeding difficulties in infancy, High palate, Hypocholesterolemia, Recurrent infections, Intestin... OMIM:244450
Sepsis In Premature Infants
Increased circulating interleukin 6, Elevated circulating C-reactive protein concentration, Vomit... ORPHA:90051
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Decreased ci... OMIM:308230
Oculocerebral Hypopigmentation Syndrome Of Preus
High, narrow palate, High palate, Generalized hypopigmentation OMIM:257790
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Waardenburg Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Abnormality of skin pigmentation, Abnormal eye... ORPHA:3440
Immunodeficiency 92
Cholangitis, BCGosis, Pneumonia, Decreased circulating IgA level, Recurrent oral herpes, Decrease... OMIM:619652
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Menorrhagia, Inflammation of the large intestine, Hepatocellular ... ORPHA:79259
Porphyria Variegata
Hyponatremia, Hypertrichosis, Hepatocellular carcinoma, Nausea, Hyperpigmentation of the skin, Hy... ORPHA:79473
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches, Celiac disease, Alopecia, Hypogonadism, Hashimoto thyroiditis ORPHA:3143
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Nausea and vomiting, Dysphagia, Abnormality of skin pigmentation, Gas... ORPHA:220402
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Angelman Syndrome Due To A Point Mutation
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... ORPHA:411511
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Increased circulating IgA ... OMIM:301000
Congenital Generalized Lipodystrophy
Oligomenorrhea, Hypertrichosis, Amenorrhea, Low anterior hairline, Macroglossia, Hypercholesterol... ORPHA:528
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Hypopigmented skin patches, Eczema, Allergic rhinitis, Erythroderma... ORPHA:330064
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Blepharitis, Hypopigmentation of the skin ORPHA:158029
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Sinusitis, Hypouricemia, Recurrent opportunistic infections, Pneu... OMIM:613179
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, High palate, Brittle hair, Pancreatitis, Hypopigmentation of the skin, Hyper... OMIM:236200
Abetalipoproteinemia
Keratoconjunctivitis sicca, Abnormality of retinal pigmentation, Decreased HDL cholesterol concen... ORPHA:14
Prader-Willi Syndrome
Feeding difficulties in infancy, Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Hypo... OMIM:176270
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Achalasia ORPHA:3239
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Feeding difficulties, Recurrent otitis media, Bifid ... ORPHA:96184
Hermansky-Pudlak Syndrome
Anorexia, Partial albinism, Ocular albinism, Long eyelashes, Menometrorrhagia, Malabsorption, Mel... ORPHA:79430
Acquired Hypertrichosis Lanuginosa
Fine hair, Macroglossia, Abnormal eyebrow morphology, Chronic diarrhea, Poor appetite, Glossitis,... ORPHA:2221
Lichen Planopilaris
Hypopigmented skin patches, Abnormal intestine morphology, Onycholysis, Alopecia, Hepatitis, Abno... ORPHA:525
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Nausea, Elevated circulating cr... ORPHA:79240
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Nasogastric tube feeding, Xerostomia, Hypogonadotropic hypogonadism, Hypopigmentatio... ORPHA:398079
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Mandibuloacral Dysplasia
High palate, Abnormality of skin pigmentation, Alopecia, Increased circulating free fatty acid le... ORPHA:2457
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism ORPHA:352723
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Feeding difficulties, Hypopigmentation of the skin, Poor suck, Iris hypopigmentation, ... ORPHA:98794
Rothmund-Thomson Syndrome
Infertility, Calcinosis, Sparse eyelashes, Vomiting, Sparse hair, Small nail, Nasogastric tube fe... ORPHA:2909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... ORPHA:391487
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Morgagni-Stewart-Morel Syndrome
Hirsutism, Acne, Hyperuricemia, Hypercholesterolemia, Osteoarthritis ORPHA:77296
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Lactose intolerance, Hypopigmented skin patches, Decreased circulating IgA leve... ORPHA:457485
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Autoimmune Lymphoproliferative Syndrome
Recurrent aphthous stomatitis, Hepatitis, Gastritis, Uveitis, Abnormal serum interleukin level, D... ORPHA:3261
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Nasogastric tube feeding, Xerostomia, Feeding difficulties, Hypopigmentation of the ... ORPHA:398069
Zygomycosis
Brain abscess, Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis... ORPHA:73263
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Angelman Syndrome
Dysphagia, Vomiting, Nasogastric tube feeding, Feeding difficulties, Gastrostomy tube feeding in ... ORPHA:72
Dowling-Degos Disease
Progressive reticulate hyperpigmentation, Acne inversa, Arthritis, Anal margin squamous cell carc... ORPHA:79145
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Esophageal varix, Oligomenorrhea, Vomiting, Nausea, Elevated circulating creatine k... ORPHA:264580
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, Hypogonadism, He... OMIM:613266
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Angelman Syndrome
Blue irides, Feeding difficulties in infancy, Macroglossia, Hypopigmentation of the skin, Fair ha... OMIM:105830
Galactokinase Deficiency
Hypergalactosemia, Feeding difficulties, Hypercholesterolemia, Premature ovarian insufficiency, H... ORPHA:79237
Slc35A2-Cdg
Increased circulating thyroglobulin level, Nasogastric tube feeding, Feeding difficulties, Hypopi... ORPHA:356961
Prader-Willi Syndrome
Infertility, Vomiting, Xerostomia, Nasogastric tube feeding in infancy, Gastroparesis, Hypopigmen... ORPHA:739
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Pneumonia, Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Atri... ORPHA:1867
Lichen Planus Pemphigoides
Abnormality of the nail, Blepharitis, Hypopigmented streaks, Conjunctivitis ORPHA:254478
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Gastrointestinal hemorrh... ORPHA:247598
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatocellular carcinoma, Vomiting, Hyp... ORPHA:247585
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Elevated circulating creatine kinase concentration, Hyperammonemia, Necrotizing enterocolitis, De... OMIM:201475
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Cleft palate, Villous ... OMIM:619573
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Bloody diarrhea, Rectal prolapse, Unconjugated hyperbilirubinemia, Vomiting, Perito... ORPHA:90038
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Hypercholesterolemia, Hypertriglyceridemia, Constipation, Synophrys OMIM:182290
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Eosi... OMIM:618999
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... ORPHA:98754
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... ORPHA:98793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... OMIM:600802
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating copper con... OMIM:300972
Rothmund-Thomson Syndrome Type 1
Calcinosis, Sparse hair, Vomiting, Nasogastric tube feeding, Functional abnormality of the gastro... ORPHA:221008
Thymoma
Abnormal lymphocyte proliferation, Neoplasm of the gastrointestinal tract, Myositis, Decreased ci... ORPHA:99867
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... ORPHA:177904
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Gastrostomy tube feeding in infancy, Decreased liver function, Hypopigmentation of hai... ORPHA:70472
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Vomiting, Nausea, Eleva... ORPHA:542323
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Increased fecal porphyrin, Hyperpigmentation of the skin, Facial hypertr... ORPHA:95159
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... ORPHA:177901
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Hartnup Disease
Hypopigmented skin patches, Infectious encephalitis, Malabsorption, Irregular hyperpigmentation, ... ORPHA:2116
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... ORPHA:567548
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Eczema, Cleft palate, Aganglionic megacolon, Vomiting, Elevated 7-dehydrocholes... OMIM:270400
Muenke Syndrome
Hypopigmented skin patches, High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, High, narrow palate, Freckling, Hyperpigmentation of the skin, Iris h... ORPHA:3214
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Tangier Disease
Hypocholesterolemia, Nail dystrophy, Abdominal pain, Hypertriglyceridemia ORPHA:31150
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Dysmenorrhea, Esophageal varix, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Elevated circ... ORPHA:370
Prader-Willi-Like Syndrome
Feeding difficulties in infancy, Infertility, Hypogonadotropic hypogonadism, Gastroparesis, Hypop... ORPHA:398073
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Degcags Syndrome
Pyloric stenosis, Recurrent infections, Oral-pharyngeal dysphagia, Low posterior hairline, Intest... OMIM:619488
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... ORPHA:562639
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Hyperlipoproteinemia, Type I
Hyperlipidemia, Vomiting, Nausea, Pancreatitis, Lactescent serum, Episodic abdominal pain, Hyperc... OMIM:238600
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Esophageal varix, Vomiting, Increased LDL cholesterol co... OMIM:278000
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Seborrhoeic blepharitis, Unconjugated hyperbilirubinemia, Increased fe... ORPHA:79277
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Abnormality o... ORPHA:2908
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Alopecia, Hypophosphatemic rickets OMIM:163200
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Dystrophic fingernails, Arthritis, Os... ORPHA:29207
Dyskeratosis Congenita
Periodontitis, Aplastic/hypoplastic toenail, Abnormal fingernail morphology, Recurrent respirator... ORPHA:1775
Scleroderma
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Barrett esopha... ORPHA:801
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Minimal change glomerulonephritis, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Sitosterolemia 1
Impaired platelet aggregation, Elevated circulating sitosterol concentration, Arthritis, Hypercho... OMIM:210250
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Prader-Willi Syndrome Due To Translocation
Feeding difficulties in infancy, Cleft palate, High palate, Stellate iris, Hypogonadotropic hypog... ORPHA:177907
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Calcinosis, Vomiting, Nasogastric tube feeding, Functional abnormality... ORPHA:221016
Crouzon Disease
Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conjunctivitis ORPHA:207
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Recurrent skin infections, Multiple c... ORPHA:302
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem... ORPHA:470
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Aganglionic megacolon, Premature graying of hair, Abnormal eyebrow mo... ORPHA:163746
Localized Scleroderma
Hypopigmented skin patches, Abnormality of skin adnexa morphology, Fasciitis, Esophagitis, Hyperp... ORPHA:90289
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Highly arched eyebrow, Thick hair ORPHA:401923
Cystinosis, Nephropathic
Hyponatremia, Dysphagia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigme... OMIM:219800
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation, Hirsutism, Nail dystrophy, Abnormal hair whorl, Low posterior hairline, ... OMIM:300860
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Systemic Sclerosis
Myocarditis, Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Barrett esophagus, ... ORPHA:90291
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Nausea and vomiting, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Hypopigment... ORPHA:183
Gapo Syndrome
Oligospermia, Hypopigmented skin patches, Sparse eyelashes, Dysmenorrhea, Amenorrhea, Early baldi... ORPHA:2067
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, Aganglionic megacolon, Agammaglobulinemia, White hair, Malabsorption, Recurrent respir... ORPHA:935
Phakomatosis Pigmentovascularis
Hypopigmented skin patches, Generalized hyperpigmentation ORPHA:2875
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, White hair, Iris hypopigmentation, Generalized hypopigmentation ORPHA:2720
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Congenital giant melanocytic nevus, Generalized hirsutism, Abnormalit... ORPHA:626
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the small intestine, Adenomatous colonic polyposis, Hypopigmentation of the ski... OMIM:276300
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, White eyelashes, Heterochromia iridis, White forelock, Thick eyebr... OMIM:193500
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Abnormal platelet function, Chron... ORPHA:906
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Ocular albinism, White eyelashes, Heterochromia iridis, ... OMIM:611584
Smith-Magenis Syndrome
Feeding difficulties in infancy, Cleft palate, Chronic otitis media, Hypercholesterolemia, Hypert... ORPHA:819
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Fair hair, Red hair OMIM:614613
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... ORPHA:64753
Galloway-Mowat Syndrome 7
Eczema, High palate, Cleft palate, Minimal change glomerulonephritis, Hypercholesterolemia OMIM:618348
Buschke-Ollendorff Syndrome
Arthritis, Generalized hypopigmentation ORPHA:1306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blue irides, Absence of Stensen duct, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Sparse... OMIM:129900
Porphyria, Congenital Erythropoietic
Hypertrichosis, Hyperpigmentation of the skin, Alopecia, Absent eyebrow, Hypopigmentation of the ... OMIM:263700
Megalocornea-Mental Retardation Syndrome
Dysphagia, High palate, Low anterior hairline, Bifid uvula, Hypercholesterolemia OMIM:249310
Chromomycosis
Recurrent bacterial infections, Hypopigmented skin patches, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, High palate, Cleft palate, Brushfield spots, Aplasia/Hypoplasia of th... ORPHA:1784
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Pancreatitis, Neoplasm of the liver, Hypercholesterolemia,... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia... OMIM:619662
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Xerostomia, Breast aplasia, Generalized hypopigmen... ORPHA:238468
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Diffuse Cutaneous Mastocytosis
Erythroderma, Vomiting, Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the ski... ORPHA:79456
Xeroderma Pigmentosum, Complementation Group C
Conjunctivitis, Hypopigmentation of the skin, Keratitis OMIM:278720
Incontinentia Pigmenti
Hypopigmented skin patches, Broad nail, Infectious encephalitis, Abnormal hair morphology, Dystro... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... ORPHA:99228
Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Hy... ORPHA:99226
Galloway-Mowat Syndrome 1
High palate, Small nail, Feeding difficulties, Hypopigmentation of the skin, Hiatus hernia, Hypoa... OMIM:251300
Congenital Factor Xiii Deficiency
Recurrent spontaneous abortion, Menorrhagia, Inflammation of the large intestine, Hepatic failure ORPHA:331
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis, Trichiasis, Abdominal distention, Hyperpigmentation of the skin, Oral-pharyngeal dysphagi... ORPHA:95455
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches, Hypogonadotropic hypogonadism, Aplastic/hypoplastic toenail, Synophrys ORPHA:1295
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent infections OMIM:617718
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Hypercholesterolemia, Hypertriglyceridemia, Alopecia universali... ORPHA:363618
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... ORPHA:412
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hepatitis, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... ORPHA:535
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, El... ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cleft palate, Synophrys, Recurrent otitis media, Hypopigmentation of the skin, Cholecystitis, Chr... OMIM:301066
Curry-Jones Syndrome
Hypopigmented skin patches, Generalized hirsutism, Intestinal malrotation ORPHA:1553
Mosaic Trisomy 8
Hypopigmented skin patches, High palate, Cleft palate, Hypopigmentation of the skin ORPHA:96061
Plague
Sepsis, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, ... ORPHA:707
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Hyponatremia, Feeding difficulties in infancy, Hypokalemia, Azoospermia, Chronic otiti... ORPHA:534
Infantile Krabbe Disease
Hypopigmented skin patches, Vomiting, Feeding difficulties, Nasogastric tube feeding in infancy, ... ORPHA:206436
Epidermal Nevus Syndrome
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:35125
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Recurrent ear infections, Neonatal hyperbilirubinemia, Recurrent cutaneous... ORPHA:163956
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Eec Syndrome
Fine hair, Cleft palate, Xerostomia, Nail dystrophy, Coarse hair, Keratitis, Inflammatory abnorma... ORPHA:1896
Koolen-De Vries Syndrome Due To A Point Mutation
Eczema, Feeding difficulties, Nasogastric tube feeding in infancy, Recurrent otitis media, Alopec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczema, Feeding difficulties, Nasogastric tube feeding in infancy, Recurrent otitis media, Alopec... ORPHA:363958
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Bone marrow hypocellularity, Generalized hypopigme... ORPHA:3322
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Short hard palate, Multiple caf... ORPHA:1969
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the eye... ORPHA:2637
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Absence of Stensen duct, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Sparse... OMIM:604292
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Broad eyebrow, High palate, Vomiting, Recurrent ear infections, Abnormality ... OMIM:619475
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Nail dystrophy, Small nail, Hypertriglyceridemia OMIM:610644
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, Long-segment a... OMIM:609136
Ruvalcaba Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:3121
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Vomiting, Nausea ORPHA:90065
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Pneumonia, Recurrent otitis media, Vitiligo, Rheumatoid arthr... OMIM:607944
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Nausea and vomiting, Hyponatremia, Esophageal varix, Vomiting, Feeding difficulties... ORPHA:275761
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Abnormal fingernail morphology, Alopecia ORPHA:1647
Short Stature With Microcephaly And Distinctive Facies
Spotty hyperpigmentation, Spotty hypopigmentation, Recurrent infections, Sparse and thin eyebrow OMIM:615789
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate ORPHA:2479
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hirsutism, Hypercholesterolemia, Acute pancreatitis, Hyp... OMIM:151660
Koolen-De Vries Syndrome
Pyloric stenosis, High, narrow palate, Feeding difficulties in infancy, Cleft palate, Abnormality... ORPHA:96169
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Hirsutism, Low ante... OMIM:617137
Harrod Syndrome
Hypopigmented skin patches, High palate ORPHA:2115
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Alopecia, Hypoplasia of the ovary, Intestinal malrotation, Azotemia, Generaliz... OMIM:619321
Fanconi Anemia
Hypopigmented skin patches, Cleft palate, Aganglionic megacolon, High palate, Duodenal stenosis, ... ORPHA:84
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... OMIM:181000
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Eczema, Pustule, Dystrophic fingernails, Dystrophic toenail, Xerostom... ORPHA:2907
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Neonatal hyperbilirubinemia, Macroglossia, Abnormal circulating ... ORPHA:90674
Pemphigus Erythematosus
Hypopigmented skin patches, Malar rash ORPHA:79480
Menkes Disease
Sepsis, Feeding difficulties in infancy, Nausea and vomiting, Sparse hair, Malabsorption, Osteomy... ORPHA:565
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Cleft palate, Central heterochromia,... ORPHA:233
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Feeding difficulties, Esophagitis, Hiatus hern... ORPHA:2896
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Male hypogonadism, Pancreatitis OMIM:619471
Gaisböck Syndrome
Hyperproteinemia, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis,... ORPHA:90041
Xeroderma Pigmentosum
Hypopigmented skin patches, Freckling, Alopecia, Melanocytic nevus, Hypogonadism, Keratitis, Blep... ORPHA:910
Sarcoidosis
Keratoconjunctivitis sicca, Hypercalcemia, Tubulointerstitial nephritis, Bronchiectasis, Hyperpig... ORPHA:797
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation ORPHA:2715
Atypical Werner Syndrome
Secondary amenorrhea, Abnormality of retinal pigmentation, Abnormal hair morphology, Alopecia, Ne... ORPHA:79474
Steinert Myotonic Dystrophy
Testicular atrophy, Feeding difficulties in infancy, Intestinal pseudo-obstruction, Early balding... ORPHA:273
22Q11.2 Deletion Syndrome
Hypopigmented skin patches, Feeding difficulties in infancy, Aganglionic megacolon, Cleft palate,... ORPHA:567
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Inflammation of the large intestine, Elevated circulatin... ORPHA:70591
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Feeding difficulties in infancy, Aganglionic megacolon, Cleft palate, Elevated ... ORPHA:818
Brittle Cornea Syndrome
Cleft palate, Abnormality of hair pigmentation ORPHA:90354
Mowat-Wilson Syndrome
Pyloric stenosis, Broad eyebrow, Dysphagia, Cleft palate, Oligomenorrhea, Aganglionic megacolon, ... ORPHA:2152
Mosaic Trisomy 20
Cleft palate, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Chronic constipation ORPHA:1724
Kindler Syndrome
Dysphagia, Spotty hypopigmentation, Ridged nail, Periodontitis, Spotty hyperpigmentation, Esophag... OMIM:173650
Neurofibromatosis Type 1
Hypopigmented skin patches, Abnormality of retinal pigmentation, Generalized hyperpigmentation, N... ORPHA:636
Familial Tumoral Calcinosis
Hypopigmented skin patches, Skin rash ORPHA:53715
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hypogonadism, Hypocalcemia, Hyperphosphatemia, Fair hair, Red hair ORPHA:280651
Sotos Syndrome
Hypercalcemia, Aganglionic megacolon, Small nail, Chronic otitis media, Feeding difficulties, Hyp... ORPHA:821
Cowden Syndrome
Colorectal polyposis, Hypopigmented skin patches, High palate, Macroglossia, Furrowed tongue, Mel... ORPHA:201
Mend Syndrome
Spotty hypopigmentation, High palate, Cleft palate, Elevated 8(9)-cholestenol, Elevated 8-dehydro... ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormality of skin pigmentation... ORPHA:2556
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Dry hair, Hypopigmentation of hair, Coarse hair, Widow's peak ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Alagille Syndrome 1
Hepatocellular carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failure, Pigmentary... OMIM:118450
Pallister-Killian Syndrome
Cleft palate, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Supernumerary nipple, Spars... OMIM:601803
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko li... OMIM:210720
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, High palate, Cleft palate, Sparse eyebrow, Patchy hypo- and hyperpigmentation... ORPHA:3063
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Abdominal distention, Elevated circulating creatinine concentration, Hyperbilir... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbtps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbtps1.

No publications found that use IMPC mice or data for Mbtps1.

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MGI Allele Allele Type Produced
Mbtps1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mbtps1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbtps1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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